Variant (rsID / SNP)

rs115440602

rs115440602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,643,474. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPRED1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:38643474
Cytoband: 15q14
HGVS: NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
Allele change: Missense_P315L

Associated conditions / phenotypes

Legius syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.